Cowden’s disease: A case report and review of the literature

Cowden’s disease: A case report and review of the literature

Το τεκμήριο παρέχεται από τον φορέα :
Ελληνική Γαστροεντερολογική Εταιρία   

Αποθετήριο :
Annals of Gastroenterology   

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Cowden’s disease: A case report and review of the literature (EN)

., C.K. Mavrogiannis
Despina T. Papadeli, D.J. Psilopoulos, I.G. Elefsiniotis,, S.S. Goulas, D.G. Papaioannou,

info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion

2007-03-19


SUMMARY Cowden’s syndrome, or multiple hamartoma syndrome, is a rare inherited disease with characteristic mucocutaneous lesions associated with multiple polyps of the gastrointestinal tract and abnormalities of the breast and thyroid gland. Cowden’s disease carries a high risk of development of malignancies, especially of breast and thyroid. Rarely malformations and abnormalities occur in the skeletal system, central nervous system and urogenital tract. Cowden’s disease is included in the gastrointestinal (GI) polyposis syndromes. Multiple, usually non-adenomatous polyps throughout the GI tract, associated with skin and oral papules and oesophageal glycogenic acanthosis are considerd pathognomonic signs for diagnosis. We present a case of a 48 yr-old Greek female with Cowden’s disease. The patient had facial papules, multiple GI hyperplastic polyps, oesophageal glycogenic acanthosis, goiter and had developed breast cancer two years previous to diagnosis. Gastroenterologists have to be aware of and recognize this unusual clinical entity because of its correlation with malignant tumors of the breast and thyroid. Key words: Cowden’s disease, Hamartoma, Hyperplastic polyp, PTEN gene, Gastrointestinal polyposis syndromes (EN)

Αγγλική γλώσσα

Hellenic Society of Gastroenterology (EN)

1792-7463
1108-7471
Annals of Gastroenterology; Volume 16, No 1 (2003) (EN)




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